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2 529 784

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IPC

G01N33/48(2006-01-01)

C40B50/00(2006-01-01)

G06F19/20(2011-01-01)

(21) (22)

Application

2012156725/15, 2012-12-26

(24)

Start date

2012-12-26

(22)

Actual filing date

2012-12-26

(45)

Published

2014-09-27

(72)

Inventor

Akhtitel'Nova Julija AleksandrovnaMazur Aleksandr MikhajlovichProkhorchuk Egor BorisovichShan'Ko Andrej ViktorovichChekanov Nikolaj NikolaevichPantjukh Katerina Sergeevna

(73)

Holder

Zakrytoe Aktsionernoe Obshchestvo

DIAGNOSTIC TECHNIQUE FOR ANEUPLOIDY BY SEQUENCE ANALYSIS Russian patent published in 2014 - IPC G01N33/48 C40B50/00 G06F19/20

Abstract RU 2529784 C2

FIELD: medicine.

SUBSTANCE: invention refers to medicine and aims at diagnosing aneuploidy by sequence analysis. Extracellular DNA is recovered from pregnant woman's blood sample. The recovered extracellular DNA is used to create a genome library. The genome libraries are sequenced to produce a number of DNA readings, and a representation of each chromosome in the genome is determined. The number of readings adjusted for different chromosomes is determined. The presence of any chromosome aneuploidy is stated if the representation of the chromosomes is found to differ from an average genome value with the representation of the chromosomes identified to be different from the average genome value at p-value < 0.0001 as a result of using one-tailed two-sample student's t-test for independent selection of window coating.

EFFECT: invention provides the effective prenatal non-invasive diagnosis of foetal aneuploidy starting from the first trimester of pregnancy.

9 cl, 1 ex

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RU 2 529 784 C2

Authors

Akhtitel'Nova Julija Aleksandrovna

Mazur Aleksandr Mikhajlovich

Prokhorchuk Egor Borisovich

Shan'Ko Andrej Viktorovich

Chekanov Nikolaj Nikolaevich

Pantjukh Katerina Sergeevna

Dates

2014-09-27—Published

2012-12-26—Filed